ClinVar Miner

List of variants in gene PRRT2 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP
NC_000016.9:g.(?_29824311)_(29827202_?)dup
NC_000016.9:g.(?_29824356)_(29825979_?)dup
NC_000016.9:g.(?_29824366)_(29825969_?)dup
NM_145239.3(PRRT2):c.1010G>A (p.Gly337Asp)
NM_145239.3(PRRT2):c.1012+58_1013del
NM_145239.3(PRRT2):c.1013-2A>G
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala) rs144540943
NM_145239.3(PRRT2):c.1016A>G (p.Tyr339Cys) rs1596895035
NM_145239.3(PRRT2):c.108G>C (p.Gln36His)
NM_145239.3(PRRT2):c.118G>A (p.Gly40Arg)
NM_145239.3(PRRT2):c.125C>T (p.Pro42Leu) rs1166053009
NM_145239.3(PRRT2):c.143C>T (p.Pro48Leu)
NM_145239.3(PRRT2):c.14G>C (p.Ser5Thr) rs745742339
NM_145239.3(PRRT2):c.15CTCTGAGAT[3] (p.Ile8_Glu10dup)
NM_145239.3(PRRT2):c.167C>T (p.Ala56Val)
NM_145239.3(PRRT2):c.168G>A (p.Ala56=)
NM_145239.3(PRRT2):c.170C>A (p.Ala57Asp)
NM_145239.3(PRRT2):c.173C>G (p.Pro58Arg) rs1567378768
NM_145239.3(PRRT2):c.176T>A (p.Val59Glu)
NM_145239.3(PRRT2):c.211A>T (p.Thr71Ser)
NM_145239.3(PRRT2):c.221C>A (p.Thr74Asn) rs1394261454
NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu) rs147004110
NM_145239.3(PRRT2):c.226G>A (p.Ala76Thr)
NM_145239.3(PRRT2):c.232G>A (p.Ala78Thr)
NM_145239.3(PRRT2):c.232G>C (p.Ala78Pro)
NM_145239.3(PRRT2):c.236C>T (p.Ser79Leu)
NM_145239.3(PRRT2):c.259C>G (p.Leu87Val) rs1596890511
NM_145239.3(PRRT2):c.268A>G (p.Ser90Gly)
NM_145239.3(PRRT2):c.270C>A (p.Ser90Arg)
NM_145239.3(PRRT2):c.272C>T (p.Pro91Leu)
NM_145239.3(PRRT2):c.274G>A (p.Gly92Arg)
NM_145239.3(PRRT2):c.280G>A (p.Glu94Lys)
NM_145239.3(PRRT2):c.293A>G (p.Asn98Ser) rs758787026
NM_145239.3(PRRT2):c.296G>A (p.Cys99Tyr)
NM_145239.3(PRRT2):c.31A>T (p.Met11Leu)
NM_145239.3(PRRT2):c.322A>T (p.Thr108Ser)
NM_145239.3(PRRT2):c.32T>C (p.Met11Thr)
NM_145239.3(PRRT2):c.349G>C (p.Glu117Gln)
NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr) rs201636905
NM_145239.3(PRRT2):c.368G>A (p.Gly123Glu) rs758798693
NM_145239.3(PRRT2):c.368G>T (p.Gly123Val)
NM_145239.3(PRRT2):c.375G>C (p.Arg125Ser)
NM_145239.3(PRRT2):c.401C>G (p.Pro134Arg)
NM_145239.3(PRRT2):c.404_427del (p.Ala135_Pro142del)
NM_145239.3(PRRT2):c.415G>A (p.Ala139Thr) rs763634807
NM_145239.3(PRRT2):c.430C>G (p.Pro144Ala)
NM_145239.3(PRRT2):c.431C>T (p.Pro144Leu) rs1317648011
NM_145239.3(PRRT2):c.433C>T (p.Arg145Trp) rs574304021
NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln) rs200877676
NM_145239.3(PRRT2):c.455C>A (p.Pro152His) rs760278435
NM_145239.3(PRRT2):c.455C>G (p.Pro152Arg)
NM_145239.3(PRRT2):c.464C>G (p.Ala155Gly)
NM_145239.3(PRRT2):c.46G>A (p.Glu16Lys)
NM_145239.3(PRRT2):c.472C>T (p.Pro158Ser)
NM_145239.3(PRRT2):c.485C>T (p.Thr162Ile) rs755440222
NM_145239.3(PRRT2):c.490G>A (p.Glu164Lys)
NM_145239.3(PRRT2):c.493G>A (p.Asp165Asn) rs1319381076
NM_145239.3(PRRT2):c.503C>T (p.Pro168Leu)
NM_145239.3(PRRT2):c.509T>G (p.Ile170Ser)
NM_145239.3(PRRT2):c.547G>C (p.Ala183Pro) rs770599131
NM_145239.3(PRRT2):c.55A>C (p.Lys19Gln)
NM_145239.3(PRRT2):c.569G>C (p.Gly190Ala)
NM_145239.3(PRRT2):c.603C>G (p.His201Gln) rs543313284
NM_145239.3(PRRT2):c.623C>T (p.Ser208Phe) rs201409113
NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser) rs779020826
NM_145239.3(PRRT2):c.641C>G (p.Ala214Gly)
NM_145239.3(PRRT2):c.643C>T (p.Pro215Ser) rs374642875
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) rs76335820
NM_145239.3(PRRT2):c.649C>A (p.Arg217=)
NM_145239.3(PRRT2):c.649C>G (p.Arg217Gly)
NM_145239.3(PRRT2):c.667G>A (p.Val223Ile)
NM_145239.3(PRRT2):c.674A>C (p.Glu225Ala)
NM_145239.3(PRRT2):c.679C>G (p.Arg227Gly)
NM_145239.3(PRRT2):c.680G>A (p.Arg227Gln) rs200849527
NM_145239.3(PRRT2):c.698G>A (p.Ser233Asn)
NM_145239.3(PRRT2):c.719G>A (p.Arg240Gln) rs758246761
NM_145239.3(PRRT2):c.721G>A (p.Gly241Ser)
NM_145239.3(PRRT2):c.733_744del (p.Arg245_Ser248del)
NM_145239.3(PRRT2):c.734G>A (p.Arg245His) rs754897123
NM_145239.3(PRRT2):c.739_740delinsAT (p.Pro247Ile)
NM_145239.3(PRRT2):c.745T>C (p.Ser249Pro) rs944092875
NM_145239.3(PRRT2):c.755C>G (p.Ala252Gly) rs1053144630
NM_145239.3(PRRT2):c.757G>A (p.Gly253Ser) rs1567379996
NM_145239.3(PRRT2):c.764G>A (p.Gly255Glu)
NM_145239.3(PRRT2):c.766G>A (p.Val256Met)
NM_145239.3(PRRT2):c.767T>A (p.Val256Glu)
NM_145239.3(PRRT2):c.772G>C (p.Gly258Arg) rs996840274
NM_145239.3(PRRT2):c.797G>A (p.Arg266Gln) rs765285598
NM_145239.3(PRRT2):c.809T>A (p.Ile270Asn)
NM_145239.3(PRRT2):c.82T>C (p.Ser28Pro)
NM_145239.3(PRRT2):c.83C>G (p.Ser28Cys)
NM_145239.3(PRRT2):c.841T>C (p.Trp281Arg) rs1567380135
NM_145239.3(PRRT2):c.845C>T (p.Pro282Leu) rs1596893062
NM_145239.3(PRRT2):c.856G>A (p.Val286Met) rs751344101
NM_145239.3(PRRT2):c.859G>C (p.Ala287Pro)
NM_145239.3(PRRT2):c.85G>A (p.Glu29Lys) rs1555502574
NM_145239.3(PRRT2):c.865G>A (p.Ala289Thr)
NM_145239.3(PRRT2):c.866C>T (p.Ala289Val) rs1446585759
NM_145239.3(PRRT2):c.871G>A (p.Ala291Thr) rs1596893141
NM_145239.3(PRRT2):c.879+4A>C
NM_145239.3(PRRT2):c.879+6C>A rs201887920
NM_145239.3(PRRT2):c.880-34G>A
NM_145239.3(PRRT2):c.883C>T (p.Arg295Trp)
NM_145239.3(PRRT2):c.884G>A (p.Arg295Gln) rs1468206811
NM_145239.3(PRRT2):c.891C>G (p.Ser297Arg)
NM_145239.3(PRRT2):c.8C>G (p.Ala3Gly) rs1555502548
NM_145239.3(PRRT2):c.907G>A (p.Val303Met)
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg) rs767799831
NM_145239.3(PRRT2):c.914G>C (p.Gly305Ala)
NM_145239.3(PRRT2):c.916G>C (p.Ala306Pro) rs727504111
NM_145239.3(PRRT2):c.916G>T (p.Ala306Ser) rs727504111
NM_145239.3(PRRT2):c.917C>T (p.Ala306Val)
NM_145239.3(PRRT2):c.922C>G (p.Arg308Gly)
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys) rs932713001
NM_145239.3(PRRT2):c.923G>A (p.Arg308His) rs989894169
NM_145239.3(PRRT2):c.923G>C (p.Arg308Pro)
NM_145239.3(PRRT2):c.926T>C (p.Leu309Pro)
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp) rs760521217
NM_145239.3(PRRT2):c.932G>A (p.Arg311Gln)
NM_145239.3(PRRT2):c.932G>C (p.Arg311Pro) rs866838115
NM_145239.3(PRRT2):c.943C>T (p.Leu315Phe)
NM_145239.3(PRRT2):c.966G>A (p.Val322=)
NM_145239.3(PRRT2):c.967G>T (p.Gly323Trp) rs757940549
NM_145239.3(PRRT2):c.974T>C (p.Val325Ala)
NM_145239.3(PRRT2):c.988G>A (p.Ala330Thr)
NM_145239.3(PRRT2):c.997G>A (p.Val333Ile) rs749851660

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